Scientific article
Case report

First successful bone marrow transplantation for X-linked chronic granulomatous disease by using preimplantation female gender typing and HLA matching

Published inPediatrics, vol. 122, no. 3, p. e778-782
Publication date2008

Allogeneic hematopoietic stem cell transplantation from an human leukocyte antigen (HLA)-identical donor is currently the only proven curative treatment for chronic granulomatous disease. Hematopoietic stem cell transplantation with alternative donors is associated with higher morbidity and mortality. Therefore, we performed in vitro fertilization and preimplantation HLA matching combined with female sexing for hematopoietic stem cell transplantation in chronic granulomatous disease. Ethical and psychological issues were considered carefully. We used in vitro fertilization with X-enriched spermatozoa followed by preimplantation genetic diagnosis to identify female HLA-genoidentical embryos in a family in need of a suitable donor for their boy affected with severe X-linked chronic granulomatous disease. Two preimplantation genetic diagnosis cycles were performed in the family. In the second cycle, 2 HLA-genoidentical female embryos were transferred and a singleton pregnancy was obtained, resulting in the birth of an unaffected girl at term. Because of insufficient cell numbers in the cord-blood source, conventional hematopoietic stem cell transplantation had to be performed at 12 months of age of the donor and 5 years of age of the recipient and resulted in complete stable donor chimerism and immunologic reconstitution up to 25 months post-hematopoietic stem cell transplantation. Hematopoietic stem cell transplantation after in vitro fertilization and combined female sexing and HLA matching offers a new and relatively rapid therapeutic option for patients with X-linked primary immunodeficiency such as chronic granulomatous disease who need hematopoietic stem cell transplantation but lack an HLA-genoidentical donor.

  • Adult
  • Bone Marrow Transplantation/*methods
  • Child, Preschool
  • Female
  • Follow-Up Studies
  • Granulomatous Disease, Chronic/diagnosis/immunology/*surgery
  • HLA Antigens/*immunology
  • Histocompatibility Testing/*methods
  • Humans
  • Infant
  • Male
  • Pregnancy
  • Preimplantation Diagnosis/*methods
  • Replantation/*methods
Citation (ISO format)
REICHENBACH, Janine et al. First successful bone marrow transplantation for X-linked chronic granulomatous disease by using preimplantation female gender typing and HLA matching. In: Pediatrics, 2008, vol. 122, n° 3, p. e778–782. doi: 10.1542/peds.2008-0123
Updates (1)
ISSN of the journal0031-4005

Technical informations

Creation03/27/2012 9:23:59 AM
First validation03/27/2012 9:23:59 AM
Update time03/14/2023 5:21:19 PM
Status update03/14/2023 5:21:19 PM
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